KIFF11 Mutation: A Boy with Painless, Progressive Vision Loss, and Nyctalopia
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Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-16147-6_49
Reference9 articles.
1. Schlogel MA, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, et al. No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. Orphanet J Rare Dis. 2015;10:52.
2. Ostergaard SMA, Mendola A, Vasudevan P, Connell FC, van Impel A, et al. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012;90:356–62.
3. Jones OP, Moore AT, Connell FC, Williams D, Quarrell O, et al. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2014;22:881–7.
4. Valentine MT, Fordyce PM, Krzysiak TC, Gilbert SP, Block SM. Individual dimers of the mitotic kinesin motor Eg5 step processively and support substantial loads in vitro. Nat Cell Biol. 2006;8:470–6.
5. Fryns JP, Smeets E, Van den Berghe H. On the nosology of the “primary true microcephaly, chorioretinal dysplasia, lymphoedema” association. Clin Genet. 1995;48:131–3.
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